Abstract
N-linked glycosylation is essential for normal cellular function. Defects have now been described in eighteen genes that participate in the process. All give rise to complex multisystem diseases which, with a few exceptions, primarily involve the nervous system. Frequent features of these disorders include developmental delay, ataxia, seizures, stroke-like episodes, recurrent infections, coagulopathy and dysmorphism. Most cases can be detected by screening carbohydrate-deficient transferrin, but definitive diagnosis requires enzymatic and molecular confirmation, frequently in collaboration with a research glycobiologist.
Original language | English (US) |
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Pages (from-to) | 144-151 |
Number of pages | 8 |
Journal | Seminars in Pediatric Neurology |
Volume | 12 |
Issue number | 3 |
DOIs | |
State | Published - Sep 2005 |
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Clinical Neurology